Cerebroretinal Microangiopathy with Calcification and Cysts in a Young Man-A Recently Described Syndrome (PowerPoint)

Update Item Information
Identifier walsh_2009_s2_c3_pp
Title Cerebroretinal Microangiopathy with Calcification and Cysts in a Young Man-A Recently Described Syndrome (PowerPoint)
Creator Pari Shams
Subject Calcification, Physiologic; Retinal Diseases; Retinal Telangiectasis; Retinal Vasculitis; Thrombotic Microangiopathies; Anemia, Macrocytic; Leukoencephalopathies
History A 24-year old male with a 2-month history of floaters affecting the left eye. Previous history significant for bilateral retinal vasculitis, migraine and complications of intrauterine growth retardation.
Pathology Calcification of basal ganglion, pons and temporal lobe.
Disease/Diagnosis Cerebroretinal microangiopathy with calcification and cysts
Clinical VA: 6/4 OD, 6/6 OS; Slow voluntary saccades; Bilateral hypertonia; Ischemic retinopathy; Left vitreous haze
Presenting Symptom Floaters OS
Neuroimaging CT; MRI
Treatment N/A
Date 2009-02-22
References 1. Linnankivi T, Valanne L, Paetau A, et al. Cerebroretinal microangiopathy with calcifications and cysts, Neurology, 67:1437-1443, 2006. 2. Briggs TA, Abdel-Salam GMH, Balicki M, et al. Cerebroretinal microangiopathy with calcifications and cysts (CRMCC), American Journal of Medical Genetics Part A, 146A:182-190, 2008. 3. Goutières F, Dollfus H, Becquet F and Dufier J-L. Extensive Brain Calcification in Two Children with Bilateral Coats' Disease, Neuropediatrics, 19-21, 1999. 4. Revesz T, Fletcher S, al-Gazali LI and DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?, J Med Genet, 29:673-5, 1992. 5. Sazgar M, Leonard NJ, Renaud DL, et al. Intracranial calcification, retinopathy, and osteopenia: a new syndrome?, Pediatr Neurol, 26:324-8, 2002.
Language eng
Format application/pdf
Type Text
Source 41st Annual Frank Walsh Society Meeting
Relation is Part of Session 2, Case 3, Walsh Session, NANOS 2009
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Holding Institution North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6g163pp
Contributor Primary Shams, Pari
Contributor Secondary Siddiqui, Ata; Scoppetuolo, Lisa; Parviour, Dominic; Mohamed, Moin; Plant, Gordon
Setname ehsl_novel_fbw
ID 178713
Reference URL https://collections.lib.utah.edu/ark:/87278/s6g163pp
Back to Search Results